Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.
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PMID:Partial monosomy 13 as the result of a balanced translocation 3/13 pat. 115 Feb 75